title: [Mucolipidoses type IV in a patient with mapuche ancestry].
abstract: We report a 7 year-old girl with mapuche ancestors, diagnosed as a cerebral palsy since infancy and on active rehabilitation. She acquired motor and cognitive skills at 3 years of age. At 5 years of age, a slow neurological deterioration started, associated to visual impairment. Optic atrophy was added to the typical neurological exam of ataxic cerebral palsy and the diagnosis was re-considered. Neuroimaging showed a slow and progressive atrophy of intracerebral structures and ultramicroscopy revealed intracytoplasmatic inclusions in conjunctiva and skin, compatible with mucolipidoses type IV (ML-IV). ML-IV must be included in the differential diagnosis of cerebral palsy associated with loss of acquired skills and progressive visual impairment. Electron microscopy of skin or conjunctiva is a useful diagnostic test. Suspicion of ML-IV must not be restricted to Ashkenazi Jewish population.
authors.affiliation: Sección Neurología infantil y Enfermedades Metabólicas, Departamento de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile. mhernand@med.puc.cl
authors.forename: Marta
authors.initials: M
authors.lastname: Hernández Ch
authors.forename: José Ignacio
authors.initials: JI
authors.lastname: Méndez C
authors.forename: María José
authors.initials: MJ
authors.lastname: Concha G
authors.forename: Isidro
authors.initials: I
authors.lastname: Huete L
authors.forename: Sergio
authors.initials: S
authors.lastname: González B
authors.forename: Gloria P
authors.initials: GP
authors.lastname: Durán S
mesh_terms: D002547:Cerebral Palsy / Q000175:diagnosis*; D002648:Child; D002677:Chile; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007199:Indians, South American; D009682:Magnetic Resonance Spectroscopy; D009081:Mucolipidoses / Q000175:diagnosis* / Q000208:ethnology